HELP: A computational framework for labelling and predicting human common and context-specific essential genes.

IF 3.8 2区 生物学 Q1 BIOCHEMICAL RESEARCH METHODS PLoS Computational Biology Pub Date : 2024-09-27 eCollection Date: 2024-09-01 DOI:10.1371/journal.pcbi.1012076
Ilaria Granata, Lucia Maddalena, Mario Manzo, Mario Rosario Guarracino, Maurizio Giordano
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Abstract

Machine learning-based approaches are particularly suitable for identifying essential genes as they allow the generation of predictive models trained on features from multi-source data. Gene essentiality is neither binary nor static but determined by the context. The databases for essential gene annotation do not permit the personalisation of the context, and their update can be slower than the publication of new experimental data. We propose HELP (Human Gene Essentiality Labelling & Prediction), a computational framework for labelling and predicting essential genes. Its double scope allows for identifying genes based on dependency or not on experimental data. The effectiveness of the labelling method was demonstrated by comparing it with other approaches in overlapping the reference sets of essential gene annotations, where HELP demonstrated the best compromise between false and true positive rates. The gene attributes, including multi-omics and network embedding features, lead to high-performance prediction of essential genes while confirming the existence of essentiality nuances.

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HELP:用于标记和预测人类常见基因和特异基因的计算框架。
基于机器学习的方法尤其适用于识别重要基因,因为这些方法可以根据多源数据的特征生成预测模型。基因本质既不是二元对立的,也不是一成不变的,而是由上下文决定的。基本基因注释数据库不允许对上下文进行个性化处理,而且其更新速度可能比新实验数据的发布还要慢。我们提出了 HELP(人类基因本质标记与预测),这是一个用于标记和预测本质基因的计算框架。它具有双重范围,可根据是否依赖实验数据来识别基因。通过在基本基因注释参考集重叠方面与其他方法的比较,证明了标记方法的有效性,其中 HELP 在假阳性率和真阳性率之间实现了最佳折衷。包括多组学和网络嵌入特征在内的基因属性在确认本质细微差别存在的同时,还能对本质基因进行高性能预测。
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来源期刊
PLoS Computational Biology
PLoS Computational Biology BIOCHEMICAL RESEARCH METHODS-MATHEMATICAL & COMPUTATIONAL BIOLOGY
CiteScore
7.10
自引率
4.70%
发文量
820
审稿时长
2.5 months
期刊介绍: PLOS Computational Biology features works of exceptional significance that further our understanding of living systems at all scales—from molecules and cells, to patient populations and ecosystems—through the application of computational methods. Readers include life and computational scientists, who can take the important findings presented here to the next level of discovery. Research articles must be declared as belonging to a relevant section. More information about the sections can be found in the submission guidelines. Research articles should model aspects of biological systems, demonstrate both methodological and scientific novelty, and provide profound new biological insights. Generally, reliability and significance of biological discovery through computation should be validated and enriched by experimental studies. Inclusion of experimental validation is not required for publication, but should be referenced where possible. Inclusion of experimental validation of a modest biological discovery through computation does not render a manuscript suitable for PLOS Computational Biology. Research articles specifically designated as Methods papers should describe outstanding methods of exceptional importance that have been shown, or have the promise to provide new biological insights. The method must already be widely adopted, or have the promise of wide adoption by a broad community of users. Enhancements to existing published methods will only be considered if those enhancements bring exceptional new capabilities.
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